Winter
New member
- Joined
- Mar 19, 2017
- Messages
- 3
- Reason
- Learn about ALS
- Country
- US
- State
- IL
- City
- Carbondale
Hi,
I should begin this by saying that, yes, I am very much an anxious person. That being said, I'm really concerned/confused by some of the genetics data I received in my promethease report (tested by 23andme), and was wondering if anyone more familiar with the studies and genetics behind ALS could offer some clarification/information/assurance. I realize that there probably aren't geneticists on here, but you all are so well-versed in this disorder, that I was hoping you could perhaps guide me even a little in understanding what this might mean for my own ALS risk.
I am heterozygous for rs3849942, rs774359, and rs2814707. All of these have association with ALS risk in research studies. rs3849942 and rs2814707, in particular, really worry me, because the studies all say that it "tags" for the C9orf72 repeat expansion. I looked up tagging, and it seems to mean in linkage disequilibrium? I'm not even sure what that means. It does seem that having an A at rs3849942 increases one's risk of having more repeats, if I'm even reading these studies correctly. Since I'm AG, is there a possibility I might not be affected? Do you need to be homozygous, or does it even matter and have nothing to do with whether or not you'll have the repeat, but is still just somehow associated with ALS?
Finally, I also have a mutation in the H63d gene for hemochromatosis (rs1799945 CG). I've read studies saying that this particular SNP has also been implicated in ALS, possibly particularly when combined with all of these other SNPs. I thought it was a harmless variant that just meant I was a carrier for hemochromatosis...I guess they think it might increase oxidative stress.
I'm 27, and have no known family history of this disease in at least the last few generations, but my mom (almost 50) has been experiencing weird symptoms where her leg suddenly and randomly "goes out," as she describes it, for a couple of years. Recently, it's all progressed to a lot of pain in her legs, and muscle twitching throughout her body. She had an EMG done last week, but hasn't been told the results yet. I read in the stickies that pain of that nature without atrophy is not typically an ALS symptom, but now I look at my genetic test and these studies and worry about her having it, or me getting it...
I can't express how much I appreciate you even giving my questions the time of day, and any insight you could offer me. Thank you so much for your time.
I should begin this by saying that, yes, I am very much an anxious person. That being said, I'm really concerned/confused by some of the genetics data I received in my promethease report (tested by 23andme), and was wondering if anyone more familiar with the studies and genetics behind ALS could offer some clarification/information/assurance. I realize that there probably aren't geneticists on here, but you all are so well-versed in this disorder, that I was hoping you could perhaps guide me even a little in understanding what this might mean for my own ALS risk.
I am heterozygous for rs3849942, rs774359, and rs2814707. All of these have association with ALS risk in research studies. rs3849942 and rs2814707, in particular, really worry me, because the studies all say that it "tags" for the C9orf72 repeat expansion. I looked up tagging, and it seems to mean in linkage disequilibrium? I'm not even sure what that means. It does seem that having an A at rs3849942 increases one's risk of having more repeats, if I'm even reading these studies correctly. Since I'm AG, is there a possibility I might not be affected? Do you need to be homozygous, or does it even matter and have nothing to do with whether or not you'll have the repeat, but is still just somehow associated with ALS?
Finally, I also have a mutation in the H63d gene for hemochromatosis (rs1799945 CG). I've read studies saying that this particular SNP has also been implicated in ALS, possibly particularly when combined with all of these other SNPs. I thought it was a harmless variant that just meant I was a carrier for hemochromatosis...I guess they think it might increase oxidative stress.
I'm 27, and have no known family history of this disease in at least the last few generations, but my mom (almost 50) has been experiencing weird symptoms where her leg suddenly and randomly "goes out," as she describes it, for a couple of years. Recently, it's all progressed to a lot of pain in her legs, and muscle twitching throughout her body. She had an EMG done last week, but hasn't been told the results yet. I read in the stickies that pain of that nature without atrophy is not typically an ALS symptom, but now I look at my genetic test and these studies and worry about her having it, or me getting it...
I can't express how much I appreciate you even giving my questions the time of day, and any insight you could offer me. Thank you so much for your time.